ClinVar Miner

List of variants in gene GPHN reported as uncertain significance for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NC_000014.8:g.(?_67346637)_(67391029_?)dup
NC_000014.9:g.(?_65957717)_(66508591_?)dup
NC_000014.9:g.(?_66965171)_(67100931_?)dup
NC_000014.9:g.(?_67058629)_(67180957_?)dup
NM_020806.4(GPHN):c.1004C>A (p.Ala335Asp) rs1555466432
NM_020806.4(GPHN):c.1033G>A (p.Val345Met)
NM_020806.4(GPHN):c.1238C>T (p.Ala413Val) rs1555490611
NM_020806.4(GPHN):c.1243G>T (p.Asp415Tyr) rs1567331787
NM_020806.4(GPHN):c.127G>A (p.Val43Ile) rs117256383
NM_020806.4(GPHN):c.1333A>C (p.Thr445Pro)
NM_020806.4(GPHN):c.144G>T (p.Leu48Phe) rs1381377609
NM_020806.4(GPHN):c.1558A>T (p.Thr520Ser) rs749747472
NM_020806.4(GPHN):c.1678C>T (p.Arg560Cys) rs1567363565
NM_020806.4(GPHN):c.1766A>G (p.Asn589Ser)
NM_020806.4(GPHN):c.1831G>A (p.Glu611Lys) rs1060499577
NM_020806.4(GPHN):c.1911-3T>C
NM_020806.4(GPHN):c.1946G>T (p.Gly649Val) rs1555506781
NM_020806.4(GPHN):c.2226G>T (p.Leu742Phe) rs1567459862
NM_020806.4(GPHN):c.271G>A (p.Ala91Thr) rs140021399
NM_020806.4(GPHN):c.28A>T (p.Asn10Tyr) rs121908539
NM_020806.4(GPHN):c.307G>A (p.Val103Ile) rs774132595
NM_020806.4(GPHN):c.381G>A (p.Met127Ile) rs1057338763
NM_020806.4(GPHN):c.390-3C>T
NM_020806.4(GPHN):c.543T>G (p.Asp181Glu) rs990423200
NM_020806.4(GPHN):c.592A>C (p.Thr198Pro) rs776521403
NM_020806.4(GPHN):c.716C>G (p.Ala239Gly) rs746967730
NM_020806.4(GPHN):c.826C>T (p.Arg276Trp) rs777009433
NM_020806.4(GPHN):c.86A>G (p.Asn29Ser) rs144247888
NM_020806.5(GPHN):c.100C>T (p.Arg34Cys)
NM_020806.5(GPHN):c.1092C>G (p.Ile364Met)
NM_020806.5(GPHN):c.1238-3C>T
NM_020806.5(GPHN):c.172A>T (p.Ile58Leu)
NM_020806.5(GPHN):c.1744G>A (p.Asp582Asn)
NM_020806.5(GPHN):c.1989G>A (p.Ser663=)
NM_020806.5(GPHN):c.278G>A (p.Arg93Gln)
NM_020806.5(GPHN):c.325C>A (p.Pro109Thr)
NM_020806.5(GPHN):c.64+6C>G
NM_020806.5(GPHN):c.670G>A (p.Val224Ile)
NM_020806.5(GPHN):c.685G>A (p.Asp229Asn)
NM_020806.5(GPHN):c.931C>T (p.Arg311Cys)
NM_020806.5(GPHN):c.941C>T (p.Thr314Ile)

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